Health and medical costs related to alcohol abuse are staggering. In 1977, approximately twenty-eight billion dollars was expended for the care of patients with alcohol-related problems; this figure does not reflect the approximately twenty billion dollars of lost productivity that occurred as a consequence of alcohol-related health problems, First Statistical Compendium on Alcohol and Health, U.S. Department of Health and Human Services (1981). Every indication points to a continued increase in alcohol-related health problems.
One of the major means of reducing the damage due to a pathologic process is early intervention. In this regard, diagnostic tools would have considerable value to the physician. The development of a diagnostic criterion to identify individuals at risk for becoming alcoholic is currently based upon the clear demonstration that genetic factors are important to the development of alcohol-related problems in a significant portion of the alcoholic population, Schuckit, in Medical and Social Aspects of Alcohol Abuse, B. Tabakoff et al., (eds.), p. 31, Plenum Press, N.Y. (1983). Thus, gene products which predispose an individual to alcohol-related problems, or closely linked gene products, could be used as "markers" to identify individuals potentially at risk for developing alcohol-related health and social problems. Early identification of "predisposed" individuals could allow primary intervention and prevention efforts to be instituted.
Although substantial work has been directed at exploring biochemical or physiological candidates for "markers," the quest is far from complete. Such studies have included examination of blood groups, Hill et al., J. Stud. Alc. 36:981 (1972), color blindness, Cruze-Coke et al., Lancet 2:1281 (1966), and enzymes related to the metabolism of ethanol, Agarwal et al., Pharmacol. Biochem. Behav. 18(Suppl. 1):89 (1983). These approaches have not proved to be successful. More recently, Schuchkit, Pharmacol. Biochem. Behav. 13(Supp. 1):9 (1980), has reported that sons of alcoholics ("family history-positive" individuals) generate, ethanol-derived blood acetaldehyde levels twice those generated by matched family history-negative individuals. Since these studies have been criticized with regard to methods employed for measurement of acetaldehyde, Eriksson, Science 207:1383 (1980), the utility of this measure must await the resolution of this controversy. Also, Von Knorring et al., Acta Psychiatrica Scandinavia 72:51 (1985) have suggested that platelet monoamine oxidase activity measures could be of value in identifying particular subgroups of alcoholics. However, examination of the presented data casts doubt that monoamine oxidase activity, in and of itself, is a distinguishing parameter for identifying individuals predisposed to alcoholism.
Another test which may distinguish individuals genetically predisposed to alcohol-related problems is the electrophysiologic response of the individuals to external stimuli. Characteristic patterns in auditory and other event-related evoked potentials have been reported in individuals with a positive family history of alcoholism, Elmasian et al., Soc. Neurosci, Abstr. 7:158 (1981), Begleiter et al., Alc.: Clin. Exptl. Res. 6:136 (1982), Begleiter et al., Science 225:1495 (1984). While this is an important finding, the generation of appropriate information regarding evoked potentials requires expensive equipment and personnel with specialized training not generally available to the practicing physician.